Summative Diagnosis:
Mutant Type 1:
Cardiovascular phenotypes: Double outlet right ventricle (DORV) with ventricular septal defect (VSD), and atrioventricular septal defect (AVSD).

Noncardiovascular phenotype: Craniofacial defects including short snout, micropthalmia, anophthalmia and micrognathia.
Mutant Type 2:
Cardiovascular phenotypes: Biventricular hypertrophy, Right aortic arch (RAA)

Noncardiovascular phenotype: Craniofacial defects including micrognathia, anopthalmia, cyclopia, astomia, holoprosencephaly

Fyler Codes
The Fyler code developed by The Boston Children's Heart Foundation in Boston Children's Hospital provides a hierarchical clinical diagnosis of congenital cardiovascular defects and other disorders. These codes are used to delineate pathology in the mutant mouse models that parallel human disease and can be cross referenced to the International Pediatric and Congenital Cardiac Code (IPCCC) (http://www.ipccc.net/).

Fyler Codes Code Description
4163 Micrognathia
4864 Anophthalmia
4877 Microphthalmia
600 Double outlet right ventricle
1100 Atrioventricular canal (endocardial cushion defect)
1300 Ventricular septal defect
2720 Right aortic arch
4338 Holoprosencephay
7505 Biventricular hypertrophy